Canonical Allele Identifier: CA2206128121

Gene: PMM2

Linked Data

• dbSNP Id: rs2060586031
• gnomAD v4: 16-8797684-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797684G>T , CM000678.2:g.8797684G>T	GRCh38
NC_000016.9:g.8891541G>T , CM000678.1:g.8891541G>T	GRCh37
NC_000016.8:g.8799042G>T	NCBI36
NG_009209.1:g.4872G>T
NG_033146.1:g.4965C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000566983.5:c.-15-4115G>T	ENSP00000457956.1:n.-15-4115G>T